• Title/Summary/Keyword: Genetic factor

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The Occurrence and Origin of a Syn-collisional Mélange in Timor (티모르섬 충돌 동시성 멜란지의 산상 및 기원)

  • Park, Seung-Ik;Koh, Hee Jae;Kim, Sung Won;Kihm, You Hong
    • Economic and Environmental Geology
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    • v.47 no.1
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    • pp.1-15
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    • 2014
  • The Bobonaro m$\acute{e}$lange is one of the youngest syn-collisional m$\acute{e}$langes, located between the Indo-Australian and Eurasian plates. The m$\acute{e}$lange has formed in association with a collision between the Australian continental margin and the Banda arc initiated in Neogene. The Suai area at the southern part of Timor is a good place to examine the genetic relationship between the m$\acute{e}$lange and other rock sequences because various tectonostratigraphic units coexist in the area. In this study, we present the structural characteristics and spatial distribution of the Bobonaro m$\acute{e}$lange investigated as a part of 1:25K scale geologic mapping in the area, and discuss on the origin of the m$\acute{e}$lange. The Bobonaro m$\acute{e}$lange in the Suai area is composed of unmetamorphosed clay matrix and blocks of various lithologies. The clay matrix mainly is reddish brown or greenish gray in colour, and has scaly texture. Most blocks are allochthonous, but mostly derived from nearby formations. Based on the internal structure and relationship with surrounding rocks, the Bobonaro m$\acute{e}$lange is genetically classified into 1) diapiric m$\acute{e}$lange; 2) tectonic m$\acute{e}$lange; and 3) broken formation. The spatial distribution of the Bobonaro m$\acute{e}$lange indicates that it intruded all pre-collisional units including the lower Australian continental margin unit(Gondwana megasequence) and the Banda arc unit. Taking the field evidences and previous genetic models into consideration, the Bobonaro m$\acute{e}$lange is interpreted to be mainly formed as a diapiric m$\acute{e}$lange originated from Gondwana megasequence, consistently effected by faulting events. This study reflects that diapiric m$\acute{e}$lange is a significant component in recent accretionay-collision belts. It suggests that diapiric process should be considered as a main genetic factor even in ancient m$\acute{e}$lange.

Molecular Genetic Analysis of Behcet's Disease in Korean (한국인 베체트 환자의 분자유전학적 연구)

  • Park, Sang-Bum;Nam, Youn-Hyoung;Park, Su-Min;Lee, Sang-Hyun;Ahn, Young-Chang;Cho, Min-Ho;Kim, Jong-Gyu;Choi, Jae-Gu;Kim, Seong-Kyu;Jang, Won-Cheoul
    • Journal of the Korean Chemical Society
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    • v.51 no.6
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    • pp.536-542
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    • 2007
  • Behcet's disease (BD) is a chronic inflammatory disorder, involving several organs. Inflammation in the disease is thought to be mediated by cytokines derived from T-helper type 1 (Th1) lymphocytes. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether HLA-B51, IL-18, SLC11A1 and TNF-α polymorphisms are associated with susceptibility to Behcet's disease in Koreans. As a results, HLA-B51 was a genetic factor with the strongest association with BD. But it is still uncertain whether this HLA molecule is directly involved in the pathogenesis of BD. Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position 137 had a higher risk of developing the ocular lesions. This study suggests that the allele 3 and the genotype allele 3 / allele 3 of 5'-promoter (GT)n polymorphism in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. There were no evidences for genetic association conferred by the TNF-α gene with respect to susceptibility to BD.

STUDIES ON THE DIMORPHISM AND TRANSITION OF BISEXUALITY OF HETEROSTYLOUS POLYGONACEAE (여뀌과 이형경식물의 Dinorphism과 Bisexuality의 변화)

  • Harn, Chang-Yawl
    • Journal of Plant Biology
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    • v.3 no.2
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    • pp.6-18
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    • 1960
  • The present experiments were designed in order to clarify the differences between the long and short styled plants and the transgressive gradition in the degree of dimorphism among the three heterostylous species of the Polygonus, P. japonica, F. esculentum, and P. senticosa, based on investigations regarding the floral structure, ecological and physiological traits, the results of which are summarized as follows: (1) P. japonica, although it exhibits typical dimorphism, has undergone so high a differentiation between long and short styled that its long styled individuals behave as if they were female; and short styled individuals as if male. In long-styled individuals, filament, anther, and pollen grains show signs of degeneration, most of the pollen being abortive. On the other hand, in short styled individuals, the filament, anther, and pollen grains have attained remarkable development; the pollen grians are large and fertile. In short-plant the fertilized flowers readily drop off in every stage of their embryo development. This species has completely lost the self-fertile property, which is characteristic of the non-dimorphic Polygonum genus. Although this specsei typically exhibits the physiological characteristics of the non-dimorphic Polygonum genus. Although this specisei typically exhibits the physiological characteristics of dimorphism in controlled pollination, the short-styled individuals bear no seed in nature, thus misleading taxonomists to idenfity the short-styled plant as male. 2) The morphological feature of the flower organ of P. senticosa obviously indicates definite dimorphism. Physiologically, however, no differentiation towards dimorphism was observed, the species still retaining, both in long and short-individuals, the self-fertile property common to the Polygonum genus. Elaborate examinations revealed that regardless of the modes of pollination, both fertiization and seed setting flourish, no differentiation betwen legitimate and illegitimate unions being recognizable. This sort of physiological property has not been observed in the investigations of other heterostylous plants. It is assumed that this species is differentiated structurally into dimorphism, but not yet physiologically. In nature, however, this plant would have more opportunities to be cross-pollinated, i.e., legitimately combined, than self-pollinated because of the development of two forms of flowers. 3) In terms of heterostylism, the F. esculentum just occupies the intermediate position between P. japonica and P. senticosa structurally, ecologically, and physiologically. Doescription of some of the physiological behavior of the plant will suffice to demonstrate the above facts. While P. japonica has completely lost its self-fertile property, P. senticosa still retains it wolly. In F. esculentum 2-6% of self-fertility is the result in illegitimate combination. There occur occasionally hereditary self fertile individuals among some of the F. or 20 min. irradiation plot, when they reach any stage of the same bacterial population. In addition to this increase of total population in the plots with the more dose of UV light irradiation, it seems that the more dose of UV light irradiation is the more shortened the generation time of Azotobacter. Therefore, it is clear that variation of reproductive rate must be, mere or less, due to the genetic effects induced by UV light irradiation. On the other hand, the lag phase or logarithmic growth phase in nonirradiated culture is shortened prominently, and this must be due to the difference in bacterial number of the original inoculm. The generation time of Azotobacter is shortened by exogeneous treatment of nuclei acid derivatives, and the degree is greater in case of DNA derivatives than RNA dervatives. W.H. Price reported that the rate of ribose nucleic acid to protein in Staphylococcus muscae is proportional to the generation time: that is the faster the cell can form ribose nucleic acid, the more rapid its growth. This explains the shortening of generation time by exogeneous RNA derivatives in this work reasonably. On the other hand, it is well known that the desoxyribose nuclic acid content per cell is constant and independent of the generation time. A.D. Laren and W.N. Takahashi reported that the infectious RNA from TMV is 6 times as sensitive to inactivation by UV as it is in the form of intact virus, and that inactivation of infectious TMV involves onlu a local change on RNA chain. But, the effect of exogeneous DNA in this work suggests that irradiated living cell which cotain DNA bring about some change on DNA moleculs as well as RNA molecules. And if the mutagenic effects of UV take into consideration, it is very reasonable. Therefore, it is clear that the variation of the generation time by UV irradiation is, more or less, due to the genetic effects. Therefore, it seems that the shortness of the average lifewpan of Azotobacter by UV irradiation is resulted not only from the influence of the environmental conditions, but also from the variation of genetic factor of the individual.

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Genetic Characteristics and Virulence Factors of Pandemic Vibrio parahaemolyticus Isolated in South Korea and Japan (한국과 일본에서 유행하는 장염비브리오의 병원성 인자와 유전자의 특성)

  • Hong, Seuk-Won;Moon, Ji-Young;Lee, Bok-Kwon;Kim, Yung-Bu
    • Journal of Life Science
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    • v.17 no.3 s.83
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    • pp.386-395
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    • 2007
  • A total of 27 strains of Vibrio parahaemolyticus (18 strains isolated from Korea and 9 strains from Japan) were serotyped and examined for biochemical characteristics, antimicrobial susceptibility patterns, cytotoxicity assay, thermostable direct hemolysin (TDH) production and molecular epidemiology. Using polymerase chain reaction (PCR) method and DNA probe hybridization method, the strains were tested for toxR, tdh, trh and ORF 8 genes. The V. parahaemolyticus isolated from patients were belonged to 8 different serotypes : O3:K6, O1:K38, O3:K57, O4:K9, O4:Kl2, O4:K68, O5:Kl5 and O6:K46. Urease-positive strain possessed the trh gene, and conversely, urease-negative strains lacked the gene, indicating that urease production by V. parahemolyticus strains strongly correlates with the possession of the trh gene. Most strains showed multiple resistant to more than three antibiotics and the antibiogram could be classified into 6 group (I to VI). All of the O3:K6 strains isolated in South Korea and Japan producted TDH at high levels. The TDH titers ranged between 256 and 2.048, and the average titer was 1009. To distinguish the new and increasingly common V. parahaemolyticus strains from clinical isolates, ORF 8 is a useful genetic marker. After Southern hybridization, the HindIII restriction fragment patterns of the tdh gene were grouped one type, respectively. One type showed two bands one of which was 4.3kb and the other was 11.5kb in size. Variation between the O3:K6 serotype are minor when compared to the differences seen with the non O3:K6 strains. The migration patterns of Not I -digested of the total DNA of the O3:K6 strains were similar, and only slight variations were observed between the serotypes. By contrast, the O3:K6 strains and non O3:K6 had markedly different profiles. In conclusion, Random amplified polymorphic DNA (RAPD) profile using appropriate primers was an effective epidemiological marker.

Changes of Leaf Characteristics, Pigment Content and Photosynthesis of Forsythia saxatilis under Two Different Light Intensities (광량 차이에 의한 산개나리의 엽 특성과 광색소 함량 및 광합성 변화)

  • Han, Sim-Hee;Kim, Du-Hyun;Kim, Gil Nam;Byun, Jae-Kyung
    • Journal of Korean Society of Forest Science
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    • v.100 no.4
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    • pp.609-615
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    • 2011
  • Forsythia saxatilis is a Korean endemic plant designated as rare and endangered by the Korea Forest Service (KFS). Growth and physiological characteristics of F. saxatilis were investigated under two different light intensities in order to figure out an appropriate growth environment for conservation and restoration of the species in its natural habitat. Shoot length, leaf size and weight, photosynthetic pigment content and photosynthetic parameters were measured for F. saxatilis grown at two experimental plots under relative light intensities (RLI) of 20% and 60% of the full sun, respectively. Fresh leaf weight of plants grown under high relative light intensities (RLI-60) exceeded that of plants grown at 20% RLI. The ratio of fresh leaf weight to leaf size at RLI-60 was 1.47 times superior comparing to that recorded at RLI-20. The content of photosynthetic pigments such as chlorophyll a, b and carotenoid were higher in plants grown at RLI-60, whereas the ratio of total chlorophyll to carotenoid content was higher in the leaves at RLI-20. Photosynthetic rate, stomatal conductance and transpiration rate at RLI-60 were, respectively, 2.5, 2.65 and 1.79 times higher comparing to those recorded at RLI-20. Water use efficiency, however, was higher at RLI-20. The chlorophyll/nitrogen ratio was 1.83 times higher at RLI-20 than at RLI-60. In contrast, the ratio of net photosynthesis to chlorophyll content at RLI-60 was 2.58 times higher than that of RLI-20. In conclusion, light intensity might be the major factor affecting growth and physiological characteristics of F. saxatilis grown under canopy of tall tree species.

Expression of Hypoxia-inducible Factor-1 $\alpha$ in Esophageal Squamous Cell Carcinoma: Relationship to Prognosis and Tumor Biomarkers (식도 편평세포암에시 Hypoxia-inducible Factor-1 $\alpha$의 발현: 예후와 종양표지자와의 상관성)

  • 양일종;김종인;이해영;천봉권;조성래
    • Journal of Chest Surgery
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    • v.37 no.8
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    • pp.691-701
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    • 2004
  • Background: Tissue hypoxia is a characteristic of many human malignant neoplasms, and hypoxia inducible factor-1 (HIF-1) plays a pivotal role in essential adaptive response to hypoxia, and activates a signal pathway for the expression of the hypoxia-regulated genes, resulting in increased oxygen delivery or facilitating metabolic adaptation to hypoxia. Increased level of HIF-1 a has been reported in many human malignancies, but in esophageal squamous cell carcinoma, the influence of HIF-1 a on tumor biology, including neovascularization, is not still defined. Material and Method: The influence of HIF-1 a expression on angiogenic factors, correlation between the tumor proliferation and HIF-1 a expression, interaction of HIF-1 a expression and p53, and correlation between HIF-1 a expression and clinicopathological prognostic parameters were investigated, using immunohistochemical stains for HIF-1 a, VEGF, CD34, p53, and Ki-67 on 77 cases of resected esophageal squamous cell carcinoma. Result: HIF-1 a expression in cancer cells was found in 33 of 77 esophageal squamous cell carcinoma cases. The 33 cases (42.9%) showed positive stain for HIF-1 a. High HIF-1 a expression was significantly associated with several pathological parameters, such as histologic grade (p=0.032), pathological TMN stage (p=0.002), the depth of tumor invasion (p=0.022), regional lymph node metastasis (p=0.002), distant metastasis (p=0.049), and lymphatic invasion (p=0.004). High HIF-1 a expression had significant VEGF immunoreactivity (p=0.008) and Ki-67 labeling index (p<0.001), but was not correlated with microvascular density within tumors (p=0.088). The high HIF-1 a expression was correlated with aberrant p53 accumulation with a marginal significance (p=0.056). The overall 5-year survival rate was 34.9%. The survival rate of patients with a high HIF-1 a expression was worse than that of patients with low-expression tumors (log-rank test, p=0.0001). High HIF-1 a expression was independent unfavorable factors although statistical significance is marginal in multivariate analysis. Conclusion: It is suggested that (1) high HIF-1 a expression in esophageal squamous cell carcinoma is associated with tumor hypoxia, or with genetic alteration in early carcinogenesis and progressive stages, (2) high HIF-1 a expression may be associated with intratumoral neovascularization through HIF-VEGF pathway, and (3) high HIF-1 a expression is associated with poor prognosis in patients with esophageal squamous cell carcinoma and may playa role as biomarker for regional lymph node metastasis.

Evaluation of the Underlying Etiology and Long-Term Prognostic Factors in Neonatal Cholestasis (신생아 담즙정체증의 원인질환 및 장기추적 예후인자에 관한 고찰)

  • Kim, Kyung-Mo;Seo, Jeong-Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.2 no.1
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    • pp.46-58
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    • 1999
  • Purpose: The aim of the present study was to evaluate the long-term clinical profile including the underlying etioligy and the prognostic factors of the neonatal cholestasis. Method: We studied the 190 infants presented with neonatal cholestasis for the last 12 years (from 1981 to 1992). The underlying causes, clinical findings and long-term outcomes were evaluated. And the prognostic factors were also analyzed. Result: Underlying disease were neonatal hepatitis in 101 (idiopathic in 77 and infectious in 24), intrahepatic bile duct paucity in 5, biliary atresia in 79, choledochal cyst in 5. Metabolic disease was not observed in this study. The important clinical problems during follow-up were persistent high fever, gastrointestinal bleeding, hepatic encephalopathy and ascites. The main causes of the death were hepatic encephalopathy and gastrointestinal bleeding. While three fourth of infants with idiopathic and infectious neonatal hepatitis recovered usually within a year, five-year survival rate for biliary atresia was just 40%, the mortality observed usually within the first year after Kasai operation and prognostic factor was the time of operation. Underlying disease was the most important prognostic factor of neonatal cholestasis. Conclusion: This study showed that most common causes of neonatal cholestasis were biliary atresia and idiopathic neonatal hepatitis, infectious neonatal hepatitis, choledochal cyst and Alagille syndrome, but few neonatal cholestasis of genetic or metabolic liver disease was observed. The most important long-term prognostic factor of neonatal cholestasis was the underlying disease.

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Analysis of the Tumor Necrosis Factor-${\alpha}$ Promoter Polymorphism in Children with Henoch-Sch$\"{o}$nlein Purpura (Henoch-Sch$\"{o}$nlein 자반증에서 Tumor Necrosis Factor-${\alpha}$ 유전자 다형성 분석)

  • Yang, Hye-Ran;Ko, Jae-Sung;Seo, Jeong-Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.10 no.1
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    • pp.11-19
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    • 2007
  • Purpose: Henoch-Sch$\"{o}$nlein purpura (HSP) is a systemic vasculitis involving the skin, joints, gastrointestinal tract, and kidney. Although the pathogenesis of HSP is still unclear, tumor necrosis factor (TNF-${\alpha}$) is regarded as an important cytokine contributing to the disease. The goal of this study was to determine the role of TNF-${\alpha}$ in the pathogenesis of HSP, and to evaluate the TNF-${\alpha}$ polymorphism for genetic susceptibility to HSP. Methods: From March 2004 to November 2005, 40 children with HSP and 32 healthy controls were included. Serum TNF-${\alpha}$ levels were measured using the ELISA method during the acute and convalescent phase of HSP. The genotypic and allelic frequencies of the TNF-${\alpha}$ gene polymorphisms at positions -308 and -238 were evaluated in patients and controls. Results: Serum TNF-${\alpha}$ levels were $23.17{\pm}11.31$ pg/mL in the acute phase of children with HSP and $10.56{\pm}5.59$ pg/mL in the convalescent phase (p=0.000). There was no significant correlation between the serum TNF-${\alpha}$ levels and the clinical scores of HSP (r=0.310, p=0.070). The genotypic frequency of the TNF-${\alpha}$ -308 polymorphism in children with HSP was not significantly different compared to healthy controls (GG 80%, GA 20% vs. GG 93.8%, GA 6.2%; p=0.094). The genotypic frequency of the TNF-${\alpha}$ -238 polymorphism in children with HSP was not significantly different (GG 97.5%, GA 2.5% vs. GG 93.8%, GA 6.3%; p=0.429). Conclusion: TNF-${\alpha}$ is assumed to be the main cytokine associated with the pathogenesis of HSP during the acute phase. However, the presence of TNF-${\alpha}$ gene polymorphisms at positions -308 and -238 did not distinguish children with HSP from normal controls.

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CHILDHOOD TRAUMA:RESILIENCE AND RISK FACTORS ON DEVELOPMENTAL TRAJECTORY (소아기 외상 : 발달경로에 따른 보호 및 위험인자)

  • Kim, Young-Shin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.13 no.1
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    • pp.15-23
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    • 2002
  • Knowledge regarding the resilience factors and risk factors of the childhood trauma on the developental trajectory is in its infancy due to the lack of prospective follow-up studies in the childhood trauma and limited understanding of the complex reciprocal interactions between childhood trauma, develop-ent and various aspects of children's environment. These difficulties in the conceptual framework and research methods in the childhood trauma are partly reflected in the inconsistencies, even controversies, of the results in the childhood trauma researches. Despite these difficulties, common aspects of the risk factors and resilience of the childhood trauma on the development can be identified from the previous studies. The resilience to the negative outcome on the development by childhood trauma includes:sex female before puberty, male after puberty or infancy), high socioeconomic status, no organic problem, easy temperament, no previous experience with early loss or separation, younger age at the trauma, better problem solving capacity, high self-esteem, internal locus of control, high coping skills, ability to identify interpersonal relationships, ability to play, sense of humor, having capable parents, having a warm relaionship with at least one of the parents, high education and participating in the organized religious activities. These commonalities of the results suggest that risk and resilient factors of the childhood trauma are interdependent, each factor has multiplicity in the impacts on the children's development according to the developmental stage of the child, family and children's other environment, trauma and stressor have diverse effects according to their intensity and risk and resilience factors could have synergistic or antagonistic effects to each other. To develop comprehensive understanding on the relationship between childhood trauma and developmental psychopathology, risk and resilience factors and to develop effective and efficient prevention and intervention, research on the effect of the stress on the neurodevelopment, on the individual differences of the response to the trauma including genetic factors and constitution, and on the brain plasticity should be accompanied in the future.

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THE ROLE OF TRANSCRIPTION FACTOR MSX2 AND DLX5 IN CALVARIAL BONE AND SUTURE DEVELOPMENT (두개골 및 두개봉합부 초기발육과정에서의 전사조절인자인 Msx2와 Dlx5의 역할)

  • Song, Min-Ho;Park, Mi-Hyun;Nam, Soon-Hyeun;Kim, Young-Jin;Ryoo, Hyun-Mo;Kim, Hyun-Jung
    • Journal of the korean academy of Pediatric Dentistry
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    • v.30 no.3
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    • pp.391-405
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    • 2003
  • Craniosynostosis, known as a premature fusion of cranial sutures, is a developmental disorder characterized by precocious differentiation and mineralization of osteoblasts in the calvarial sutures. Recent genetic studies have demonstrated that mutation in the homeobox gene Msx2 causes Boston-type human craniosynostosis. Additionally, the phenotype of Dlx5 homozygote mutant mouse presents craniofacial abnormalities including a delayed ossification of calvarial bone. Furthermore transcription of osteocalcin, a mature osteoblast marker, is reciprocally regulated by the homeodomain proteins Msx2 and Dlx5. These facts suggest important roles of osteocalcin, Msx2 and Dlx5 genes in the calvarial bone growth and suture morphogenesis. To elucidate the function of these molecules in the early morphogenesis of mouse cranial sutures, we have first analyzed by in situ hybridization the expression of osteocalcin, Msx2 and Dlx5 genes in the developing parietal bone and sagittal suture of mouse calvaria during the embryonic (E15-E18) stage. Osteocalcin mRNA was found in the periosteum of parietal bones from E15, and gradually more highly expressed with aging. Msx2 mRNA was intensely expressed in the sutural mesenchyme, osteogenic fronts and mildly expressed in the dura mater during the embryonic stage. Dlx5 mRNA was intensely expressed osteogenic fronts and the periostem of parietal bones. To further examine the upstream signaling molecules of transcription factor Msx2 and Dlx5, we have done in vitro experiments in E15.5 mouse calvarial explants. Interestingly, implantation of BMP2-, BMP4-soaked beads onto the osteogenic fronts after 48 hours organ culture induced etopic expressions of Msx2 and Dlx5 genes. On the other hand, overexpression of $TGF{\beta}1$, GDF-6, -7, FGF-2, -4 and Shh did not induce the expression of Msx2 and Dlx5. Taken together. these data indicate that transcription factor Msx2 and Dlx5 play critical roles in the calvarial bone and suture development, and that BMP siganling is involved in the osteogenesis of calvarial bones and the maintenance of cranial sutures through regulating these two transcriotpn factors. Furthermore, different expression patterns between Msx2 and Dlx5 suggest their specific functions in the osteoblast differentiation.

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